Shapiro L - Search Results

1

Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation.

Petukhova L, Sousa EC Jr, Martinez-Mir A, Vitebsky A, Dos Santos LG, Shapiro L, Haynes C, Gordon D, Shimomura Y, Christiano AM. Petukhova L, et al. Among authors: shapiro l. Genomics. 2008 Nov;92(5):273-8. doi: 10.1016/j.ygeno.2008.06.009. Epub 2008 Sep 13. Genomics. 2008. PMID: 18692127 Free PMC article.

2

Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions.

Schaffer JV, Bazzi H, Vitebsky A, Witkiewicz A, Kovich OI, Kamino H, Shapiro LS, Amin SP, Orlow SJ, Christiano AM. Schaffer JV, et al. J Invest Dermatol. 2006 Jun;126(6):1286-91. doi: 10.1038/sj.jid.5700237. J Invest Dermatol. 2006. PMID: 16543896 Free article.

3

Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair.

Shimomura Y, Wajid M, Ishii Y, Shapiro L, Petukhova L, Gordon D, Christiano AM. Shimomura Y, et al. Among authors: shapiro l. Nat Genet. 2008 Mar;40(3):335-9. doi: 10.1038/ng.100. Epub 2008 Feb 24. Nat Genet. 2008. PMID: 18297072

4

Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene.

Shimomura Y, Garzon MC, Kristal L, Shapiro L, Christiano AM. Shimomura Y, et al. Among authors: shapiro l. Exp Dermatol. 2009 Mar;18(3):218-21. doi: 10.1111/j.1600-0625.2008.00788.x. Epub 2008 Sep 18. Exp Dermatol. 2009. PMID: 18803659 Free PMC article.

5

Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis.

Shimomura Y, Wajid M, Petukhova L, Shapiro L, Christiano AM. Shimomura Y, et al. Among authors: shapiro l. J Invest Dermatol. 2009 Mar;129(3):622-8. doi: 10.1038/jid.2008.290. Epub 2008 Oct 2. J Invest Dermatol. 2009. PMID: 18830268 Free article.

6

P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle.

Shimomura Y, Wajid M, Shapiro L, Christiano AM. Shimomura Y, et al. Among authors: shapiro l. Development. 2008 Feb;135(4):743-53. doi: 10.1242/dev.006718. Epub 2008 Jan 16. Development. 2008. PMID: 18199584

7

FGF5 is a crucial regulator of hair length in humans.

Higgins CA, Petukhova L, Harel S, Ho YY, Drill E, Shapiro L, Wajid M, Christiano AM. Higgins CA, et al. Among authors: shapiro l. Proc Natl Acad Sci U S A. 2014 Jul 22;111(29):10648-53. doi: 10.1073/pnas.1402862111. Epub 2014 Jul 2. Proc Natl Acad Sci U S A. 2014. PMID: 24989505 Free PMC article.

8

The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene.

Jahoda CA, Kljuic A, O'Shaughnessy R, Crossley N, Whitehouse CJ, Robinson M, Reynolds AJ, Demarchez M, Porter RM, Shapiro L, Christiano AM. Jahoda CA, et al. Among authors: shapiro l. Genomics. 2004 May;83(5):747-56. doi: 10.1016/j.ygeno.2003.11.015. Genomics. 2004. PMID: 15081105

9

A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis.

Messenger AG, Bazzi H, Parslew R, Shapiro L, Christiano AM. Messenger AG, et al. Among authors: shapiro l. J Invest Dermatol. 2005 Nov;125(5):1077-9. doi: 10.1111/j.0022-202X.2005.23903.x. J Invest Dermatol. 2005. PMID: 16297213 Free article. No abstract available.

10

Hairless is a histone H3K9 demethylase.

Liu L, Kim H, Casta A, Kobayashi Y, Shapiro LS, Christiano AM. Liu L, et al. Among authors: shapiro ls. FASEB J. 2014 Apr;28(4):1534-42. doi: 10.1096/fj.13-237677. Epub 2013 Dec 13. FASEB J. 2014. PMID: 24334705 Free PMC article.

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